The association of red urine with "porphyrins" was first described in 1874 in relation to congenital erythropoietic porphyria
, with the first observation in an acute porphyria in 1880.
This has been reported following tetracycline hydrochloride as well as in five types of cutaneous porphyria (porphyria cutanea tarda, erythropoietic porphyria
, erythropoietic protoporphyria, and variegate porphyria as well as in pseudoporphyria).
There are five types of cutaneous porphyrias: congenital erythropoietic porphyria
, porphyria cutanea tarda (PCT), hepatoerythropoietic porphyria, erythropoietic protoporphyria, and X-linked dominant erythropoietic protoporphyria.
divided in erythropoietic protoporphyria (EPP) and congenital erythropoietic porphyria
Congenital erythropoietic porphyria
is a rare inborn error of heme synthesis inherited as autosomal recessive disease.
Diagnosis of 65 cases of VP, 36 cases of PCT, 6 of acute intermittent porphyria (AIP), 3 of erythropoietic protoporphyria (EPP), 5 of X-linked protoporphyria and 1 of congenital erythropoietic porphyria
His clinical, radiological, hematological features, fluorescent microscopy of urine and histopathology of subepidermal blister with PAS-positive material deposited in the upper dermis in a perivascular and periadnexal distribution were suggestive of congenital erythropoietic porphyria
, was treated with beta carotene and advised to avoid sun exposure by using sun protective clothing.
A number of porphyrias are extremely rare--only 5 cases of dehydrogenase deficiency porphyria have been reported,for example, and the incidence of congenital erythropoietic porphyria
is <1 in a million.
It has expanded and new conditions like congenital vertebral malformation, erythropoietic porphyria
, incarcerated umbilical hernia, bleeding calf syndrome, besnoitiosis, tail sequestrum, rib fracture, abomasal impaction, tuberculosis, cardiac tamponade from tire wire, digital dermatitis, crushed tail head, BVD/MD retinopathy, botulism, fatty liver syndrome, persistent preputial frenulum, ischemic teat necrosis, and jejunal hemorrhagic syndrome.
Differential diagnosis may include hypocalcified form of amelogenesis imperfecta, congenital erythropoietic porphyria
, Kostmann's condition (conditions leading to early tooth loss), cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome, tetracycline discoloration and staining of the teeth, vitamin D-dependent and vitamin D-rickets.